Mutagenetix > Incidental Mutation

Incidental Mutation 'R2851:Cnn3'

476773

Institutional Source

Beutler Lab

Gene Symbol

Cnn3

Ensembl Gene

ENSMUSG00000053931

Gene Name

calponin 3, acidic

Synonyms

1600014M03Rik, Calpo3

MMRRC Submission

040444-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R2851 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121220190-121251854 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 121243702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029773] [ENSMUST00000197135] [ENSMUST00000198393]

AlphaFold

Q9DAW9

Predicted Effect

silent
Transcript: ENSMUST00000029773

SMART Domains

Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931

Domain	Start	End	E-Value	Type
CH	28	125	3.92e-27	SMART
Pfam:Calponin	164	188	1.1e-19	PFAM
Pfam:Calponin	204	228	7.4e-17	PFAM
Pfam:Calponin	243	267	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196671

Predicted Effect

silent
Transcript: ENSMUST00000197135

SMART Domains

Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931

Domain	Start	End	E-Value	Type
CH	28	120	8.6e-10	SMART
Pfam:Calponin	158	183	1e-10	PFAM
Pfam:Calponin	197	222	9.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198393

SMART Domains

Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931

Domain	Start	End	E-Value	Type
Blast:CH	1	28	7e-12	BLAST
SCOP:d1h67a_	1	35	9e-9	SMART
PDB:1WYN\|A	1	53	3e-21	PDB
Pfam:Calponin	67	92	1.2e-14	PFAM
Pfam:Calponin	107	132	3.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199188

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe exencephaly, neuronal tissue overgrowth and die immediately postnatal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Ceacam11	T	C	7: 17,712,451 (GRCm39)	I300T	probably benign	Het
Cmtm5	A	G	14: 55,175,512 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,585,614 (GRCm39)	N1254K	probably damaging	Het
Crispld2	T	A	8: 120,740,828 (GRCm39)	L107Q	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cyp1b1	T	C	17: 80,017,649 (GRCm39)	N502S	probably benign	Het
Cyp51	A	T	5: 4,149,183 (GRCm39)	D231E	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dscam	T	C	16: 96,423,915 (GRCm39)	T1677A	possibly damaging	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Emilin1	A	G	5: 31,074,509 (GRCm39)	D250G	probably benign	Het
Frrs1	A	G	3: 116,678,778 (GRCm39)	N200S	probably benign	Het
Fstl5	T	A	3: 76,337,045 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,703,159 (GRCm39)	S92A	probably damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Il19	A	G	1: 130,863,694 (GRCm39)	V99A	possibly damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Itgad	T	A	7: 127,803,732 (GRCm39)	V42E	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mfsd4b2	T	A	10: 39,798,119 (GRCm39)	S79C	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mthfsd	G	A	8: 121,832,512 (GRCm39)	T60I	probably benign	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Nceh1	A	G	3: 27,295,504 (GRCm39)	Y255C	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ndufb5	T	C	3: 32,800,600 (GRCm39)	F58L	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Obscn	C	A	11: 58,920,844 (GRCm39)		probably null	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pias3	A	G	3: 96,610,853 (GRCm39)	E377G	possibly damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Ppa2	A	T	3: 133,026,764 (GRCm39)		probably null	Het
Proser1	G	A	3: 53,387,966 (GRCm39)	A885T	probably benign	Het
Robo2	A	G	16: 73,758,776 (GRCm39)	I665T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Secisbp2	G	A	13: 51,808,671 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,921,557 (GRCm39)	T445A	probably damaging	Het
Tdrd12	G	A	7: 35,184,798 (GRCm39)	T705M	probably damaging	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Timm22	G	A	11: 76,304,925 (GRCm39)	A188T	probably damaging	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Tmprss12	C	A	15: 100,180,296 (GRCm39)	T112K	possibly damaging	Het
U2surp	A	G	9: 95,382,735 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,230,036 (GRCm39)	E25D	probably benign	Het
Wdr62	A	T	7: 29,960,862 (GRCm39)	N22K	possibly damaging	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	Het

Other mutations in Cnn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02900:Cnn3	APN	3	121,245,143 (GRCm39)	missense	probably benign	0.03
BB009:Cnn3	UTSW	3	121,245,078 (GRCm39)	missense	probably benign	0.15
BB019:Cnn3	UTSW	3	121,245,078 (GRCm39)	missense	probably benign	0.15
R0711:Cnn3	UTSW	3	121,243,633 (GRCm39)	missense	probably benign	0.00
R0811:Cnn3	UTSW	3	121,248,600 (GRCm39)	missense	probably damaging	1.00
R0812:Cnn3	UTSW	3	121,248,600 (GRCm39)	missense	probably damaging	1.00
R1368:Cnn3	UTSW	3	121,250,786 (GRCm39)	missense	probably benign	0.01
R1567:Cnn3	UTSW	3	121,243,607 (GRCm39)	nonsense	probably null
R1675:Cnn3	UTSW	3	121,250,818 (GRCm39)	nonsense	probably null
R2132:Cnn3	UTSW	3	121,245,584 (GRCm39)	missense	probably damaging	0.97
R5850:Cnn3	UTSW	3	121,245,577 (GRCm39)	missense	probably damaging	0.99
R6936:Cnn3	UTSW	3	121,243,702 (GRCm39)	start gained	probably benign
R7196:Cnn3	UTSW	3	121,248,437 (GRCm39)	splice site	probably null
R7851:Cnn3	UTSW	3	121,250,992 (GRCm39)	missense	possibly damaging	0.85
R7866:Cnn3	UTSW	3	121,245,042 (GRCm39)	missense	probably benign	0.16
R7867:Cnn3	UTSW	3	121,248,704 (GRCm39)	missense	probably benign	0.27
R7932:Cnn3	UTSW	3	121,245,078 (GRCm39)	missense	probably benign	0.15
R8139:Cnn3	UTSW	3	121,248,718 (GRCm39)	missense	probably damaging	1.00
R8320:Cnn3	UTSW	3	121,243,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-15